Variant report

Variant	rs291429
Chromosome Location	chr2:191197941-191197942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191183612..191185987-chr2:191197028..191199331,2	K562	blood:
2	chr2:191192688..191195357-chr2:191197273..191199256,2	K562	blood:
3	chr2:191196727..191198778-chr2:191223170..191225745,2	K562	blood:

Variant related genes	Relation type
ENSG00000198130	Chromatin interaction
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11683763	0.82[YRI][hapmap]
rs11888626	0.83[YRI][hapmap]
rs12693568	0.96[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13006833	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1366672	0.85[LWK][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap]
rs172366	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876877	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2136566	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2136569	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271270	0.87[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap]
rs2303827	0.83[YRI][hapmap]
rs2582735	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582736	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2582746	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2582766	0.90[AMR][1000 genomes]
rs2582770	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664251	0.96[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664252	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664253	0.96[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2664259	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2664260	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664275	0.84[YRI][hapmap]
rs291407	0.87[LWK][hapmap];0.83[MKK][hapmap]
rs291418	0.81[LWK][hapmap]
rs291427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291428	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs291431	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291444	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291445	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291447	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291448	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291449	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291453	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291458	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291459	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291460	0.96[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291461	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291462	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291464	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs291466	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291468	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs291470	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291472	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2919677	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3828269	0.85[LWK][hapmap];0.83[MKK][hapmap];0.82[YRI][hapmap]
rs4853685	0.83[LWK][hapmap];0.83[MKK][hapmap]
rs6434387	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6720060	0.83[YRI][hapmap]
rs6751588	0.83[YRI][hapmap]
rs6753459	0.83[LWK][hapmap];0.83[MKK][hapmap]
rs906916	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs291429	HIBCH	cis	lung	GTEx
rs291429	HIBCH	cis	lymphoblastoid	seeQTL
rs291429	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291429	HIBCH	cis	cerebellum	SCAN
rs291429	HIBCH	cis	multi-tissue	Pritchard
rs291429	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291429	INPP1	cis	parietal	SCAN
rs291429	HIBCH	cis	Muscle Skeletal	GTEx
rs291429	HIBCH	cis	parietal	SCAN
rs291429	INPP1	cis	cerebellum	SCAN
rs291429	INPP1	cis	lymphoblastoid	seeQTL
rs291429	HIBCH	cis	Lymphoblastoid	GTEx
rs291429	HIBCH	cis	Thyroid	GTEx
rs291429	HIBCH	cis	Heart Left Ventricle	GTEx
rs291429	HIBCH	cis	Stomach	GTEx
rs291429	MFSD6	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191191600-191208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191197800-191198000	Enhancers	K562	blood
3	chr2:191197800-191198400	Enhancers	Liver	Liver
4	chr2:191197800-191198400	Enhancers	Right Atrium	heart
5	chr2:191197800-191198400	Enhancers	Spleen	Spleen
6	chr2:191197800-191199000	Enhancers	HepG2	liver
7	chr2:191197800-191199200	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:191197800-191199400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:191197800-191199400	Enhancers	Fetal Intestine Large	intestine
10	chr2:191197800-191200800	Enhancers	Fetal Intestine Small	intestine

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